Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
about
Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expressionIdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociNewfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceIdentification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamilyFundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.The human obesity gene map: the 2000 update.Fetal renal anomalies and genetic syndromes.The human obesity gene map: the 2001 update.A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.The human obesity gene map: the 2002 update.Obesity--is it a genetic disorder?Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Genetic isolates in ophthalmic diseases.Recalcitrant psoriasis vulgaris associated with Laurence-Moon-Biedl syndrome.Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.Triallelic inheritance: a bridge between Mendelian and multifactorial traits.BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.The Human Obesity Gene Map: The 2004 Update
P2860
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P2860
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Delineation of the critical in ...... otype analysis of 91 pedigrees
@nl
Delineation of the critical in ...... type analysis of 91 pedigrees.
@ast
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en-gb
type
label
Delineation of the critical in ...... otype analysis of 91 pedigrees
@nl
Delineation of the critical in ...... type analysis of 91 pedigrees.
@ast
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en-gb
prefLabel
Delineation of the critical in ...... otype analysis of 91 pedigrees
@nl
Delineation of the critical in ...... type analysis of 91 pedigrees.
@ast
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en-gb
P2093
P2860
P356
P1476
Delineation of the critical in ...... type analysis of 91 pedigrees.
@en
P2093
D W Stockton
J R Lupski
P L Beales
P2860
P304
P356
10.1086/302684
P407
P577
1999-12-01T00:00:00Z